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myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies

MONDO:0033548

Also known as:MYODRIFMyopathy, Congenital, Due to Myod1 Deficiency

Overview

GeneticsAutosomal recessive · MYOD1 (chr 11)

OnsetANTENATAL, CONGENITAL

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Tented upper lip vermilion, Failure to thrive in infancy, Renal hypoplasia, and Myopathy and others; and common findings: Narrow forehead, Long philtrum, Overlapping toe, and Cystic hygroma and others. 41 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	5	Tented upper lip vermilion, High palate, Cleft palate

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MYOD1 encodes myogenic differentiation 1 (320 aa). Acts as a transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation. Highest expression in Muscle Skeletal (21.7 TPM) and Testis (1.0 TPM).

Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies is associated with mutations in the MYOD1 gene on chromosome 11.

MYOD1 is classified as a druggable target (Clinically Actionable, Transcription Factor, and Transcription Factor Complex categories) with score 1.1.

Diagnosis

Genetic testing for MYOD1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 28 always present features, 11 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies.

1 publication has been identified in PubMed for myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies. Research spans Case Report / Case Series (100%).

Recent Publications

Ma C (2025). [PMID: 37431717](https://pubmed.ncbi.nlm.nih.gov/37431717/). *Ear, nose, & throat journal*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618975

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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